LAD1, ladinin 1, 3898

N. diseases: 87; N. variants: 2
Disease: Congenital disorder of glycosylation, type 2C ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0398739
Disease: Congenital disorder of glycosylation, type 2C
Congenital disorder of glycosylation, type 2C 		0.050 GeneticVariation disease BEFREE Leukocyte adhesion deficiency type II (LAD II) is a rare disorder characterized by recurrent infections, persistent leukocytosis and severe mental and growth retardation. 11529501 2001
CUI: C0398739
Disease: Congenital disorder of glycosylation, type 2C
Congenital disorder of glycosylation, type 2C 		0.050 Biomarker disease BEFREE Following the recent recommendations for the nomenclature for CDG, this new type is classified as CDG-IIc (formerly LAD II). 11326280 2001
CUI: C0398739
Disease: Congenital disorder of glycosylation, type 2C
Congenital disorder of glycosylation, type 2C 		0.050 GeneticVariation disease BEFREE Leukocyte adhesion deficiency type II (LAD II) is caused by a disorder in the metabolism of GDP-L-fucose, which causes hypofucosylation of glycoconjugates. 10410995 1999
CUI: C0398739
Disease: Congenital disorder of glycosylation, type 2C
Congenital disorder of glycosylation, type 2C 		0.050 GeneticVariation disease BEFREE Leukocyte adhesion deficiency type II (LAD II) is a rare disorder characterized by recurrent infections, persistent leukocytosis, and severe mental and growth retardation. 10571012 1999
CUI: C0398739
Disease: Congenital disorder of glycosylation, type 2C
Congenital disorder of glycosylation, type 2C 		0.050 GeneticVariation disease BEFREE Leukocyte adhesion deficiency type II (LAD II) is a rare genetic disease characterized by severe immunodeficiency which is related to defective expression in leukocytes of sialyl-Lewis X (SLeX), a fucosylated ligand for endothelial selectins. 9662431 1998